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rs121912942

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912942(C;T)
Make rs121912942(T;T)
ReferenceGRCh38 38.1/141
Chromosome21
Position46126535
GeneCOL6A2
is asnp
is mentioned by
dbSNPrs121912942
ebirs121912942
HLIrs121912942
Exacrs121912942
Varsomers121912942
Maprs121912942
PheGenIrs121912942
hapmaprs121912942
1000 genomesrs121912942
hgdprs121912942
ensemblrs121912942
gopubmedrs121912942
geneviewrs121912942
scholarrs121912942
googlers121912942
pharmgkbrs121912942
gwascentralrs121912942
openSNPrs121912942
23andMers121912942
23andMe allrs121912942
SNP Nexus

SNPshotrs121912942
SNPdbers121912942
MSV3drs121912942
GWAS Ctlgrs121912942
Max Magnitude0
OMIM120240
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912942(T;T)
Alt rs121912942(T;T)
Reference rs121912942(C;C)
Significance Pathogenic
Disease Myosclerosis BETHLEM MYOPATHY 1
Variation info
Gene COL6A2
CLNDBN Myosclerosis, autosomal recessive BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
Reversed 0
HGVS NC_000021.8:g.47546449C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018705.26, RCV000186497.2,